Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart Macgregor, Alex W. Hewitt, Abhishek Nag, Ching Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George Mcmahon, John P. Kemp, Beate St Pourcain, Claire L. Simpson, Kari Matti Mäkelä, Terho LehtimäkiMika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W.H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E.K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea Chuen Khor, E. Shyong Tai, Tin Aung, Eranga Vithana, Wan Ting Tay, Veluchamy A. Barathi, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar

Research output: Journal article publicationJournal articleAcademic researchpeer-review

354 Citations (Scopus)


Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalNature Genetics
Issue number3
Publication statusPublished - 1 Mar 2013

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia'. Together they form a unique fingerprint.

Cite this